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+ Genes 130

+ Genes associated with diseases 90

Genes at Omim

ABCA7, ABCB4, ACTN2, ALMS1, AMH, ANK1, AQP3, ARHGAP31, ARID1B, ATM, ATP7B, BLNK, BSG, C6, CACNA1A, CAPN3, CASR, CEP290, CHD8, COL12A1, COL17A1, COL25A1, COL5A2, COL6A2, COQ2, CP, CR1, CUBN, CUL7, CYP17A1, DLL3, DNAH9, DNMT3B, DST, DUOX2, EPAS1, ESCO2, FAM83H, FBLN1, FLNC, FLT4, FREM1, FREM2, HFE, HGD, HMCN1, HPS5, ITPR1, JPH3, KEL, KRT86, LAMA2, LIPE, LRP5, LZTFL1, MCM6, MYO6, NOD2, NPHP4, NSMF, OPN1LW, OPN1MW, PCDH19, PDE6B, PHGDH, PLCB4, PLCD1, POGZ, POLD1, POLG, PRKDC, PTPN14, RAD54L, RNF213, RPGRIP1L, RTN4R, RYR2, SCNN1G, SLC19A3, SMARCAL1, SPTA1, TAF15, TBX15, TERT, TFRC, TGFBI, TUBGCP4, TUBGCP6, XPNPEP2, ZFHX3,
ABCA7 {Alzheimer disease 9, susceptibility to}, 608907 (3)
ABCB4 Gallbladder disease 1, 600803 (3)
Cholestasis, intrahepatic, of pregnancy, 3, 614972 (3)
Cholestasis, progressive familial intrahepatic 3, 602347 (3)
ACTN2 Cardiomyopathy, dilated, 1AA, with or without LVNC, 612158 (3)
Cardiomyopathy, hypertrophic, 23, with or without LVNC, 612158 (3)
ALMS1 Alstrom syndrome, 203800 (3)
AMH Persistent Mullerian duct syndrome, type I, 261550 (3)
ANK1 Spherocytosis, type 1, 182900 (3)
AQP3 [Blood group GIL], 607457 (3)
ARHGAP31 Adams-Oliver syndrome 1, 100300 (3)
ARID1B Coffin-Siris syndrome 1, 135900 (3)
ATM Ataxia-telangiectasia, 208900 (3)
Lymphoma, B-cell non-Hodgkin, somatic (3)
Lymphoma, mantle cell, somatic (3)
T-cell prolymphocytic leukemia, somatic (3)
{Breast cancer, susceptibility to}, 114480 (3)
ATP7B Wilson disease, 277900 (3)
BLNK ?Agammaglobulinemia 4, 613502 (3)
BSG [Blood group, OK], 111380 (3)
C6 C6 deficiency, 612446 (3)
Combined C6/C7 deficiency (3)
CACNA1A Epileptic encephalopathy, early infantile, 42, 617106 (3)
Episodic ataxia, type 2, 108500 (3)
Migraine, familial hemiplegic, 1, 141500 (3)
Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, 141500 (3)
Spinocerebellar ataxia 6, 183086 (3)
CAPN3 Muscular dystrophy, limb-girdle, autosomal dominant 4, 618129 (3)
Muscular dystrophy, limb-girdle, autosomal recessive 1, 253600 (3)
CASR Hyperparathyroidism, neonatal, 239200 (3)
Hypocalcemia, autosomal dominant, 601198 (3)
Hypocalcemia, autosomal dominant, with Bartter syndrome, 601198 (3)
Hypocalciuric hypercalcemia, type I, 145980 (3)
{Epilepsy idiopathic generalized, susceptibility to, 8}, 612899 (3)
CEP290 Joubert syndrome 5, 610188 (3)
Leber congenital amaurosis 10, 611755 (3)
Meckel syndrome 4, 611134 (3)
?Bardet-Biedl syndrome 14, 615991 (3)
Senior-Loken syndrome 6, 610189 (3)
CHD8 {Autism, susceptibility to, 18}, 615032 (3)
COL12A1 Bethlem myopathy 2, 616471 (3)
?Ullrich congenital muscular dystrophy 2, 616470 (3)
COL17A1 Epidermolysis bullosa, junctional, localisata variant, 226650 (3)
Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3)
Epithelial recurrent erosion dystrophy, 122400 (3)
COL25A1 Fibrosis of extraocular muscles, congenital, 5, 616219 (3)
COL5A2 Ehlers-Danlos syndrome, classic type, 2, 130010 (3)
COL6A2 Bethlem myopathy 1, 158810 (3)
?Myosclerosis, congenital, 255600 (3)
Ullrich congenital muscular dystrophy 1, 254090 (3)
COQ2 Coenzyme Q10 deficiency, primary, 1, 607426 (3)
{Multiple system atrophy, susceptibility to}, 146500 (3)
CP Hemosiderosis, systemic, due to aceruloplasminemia, 604290 (3)
Cerebellar ataxia, 604290 (3)
[Hypoceruloplasminemia, hereditary], 604290 (3)
CR1 CR1 deficiency (1)
{Malaria, severe, resistance to}, 611162 (3)
[Blood group, Knops system], 607486 (3)
{?SLE susceptibility} (1)
CUBN Megaloblastic anemia-1, Finnish type, 261100 (3)
CUL7 3-M syndrome 1, 273750 (3)
CYP17A1 17,20-lyase deficiency, isolated, 202110 (3)
17-alpha-hydroxylase/17,20-lyase deficiency, 202110 (3)
DLL3 Spondylocostal dysostosis 1, autosomal recessive, 277300 (3)
DNAH9 Ciliary dyskinesia, primary, 40, 618300 (3)
DNMT3B Immunodeficiency-centromeric instability-facial anomalies syndrome 1, 242860 (3)
DST Epidermolysis bullosa simplex, autosomal recessive 2, 615425 (3)
?Neuropathy, hereditary sensory and autonomic, type VI, 614653 (3)
DUOX2 Thyroid dyshormonogenesis 6, 607200 (3)
EPAS1 Erythrocytosis, familial, 4, 611783 (3)
ESCO2 Roberts syndrome, 268300 (3)
SC phocomelia syndrome, 269000 (3)
FAM83H Amelogenesis imperfecta, type IIIA, 130900 (3)
FBLN1 Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses, 608180 (4)
FLNC Cardiomyopathy, familial hypertrophic, 26 (3)
Cardiomyopathy, familial restrictive 5, 617047 (3)
Myopathy, distal, 4, 614065 (3)
Myopathy, myofibrillar, 5, 609524 (3)
FLT4 Hemangioma, capillary infantile, somatic, 602089 (3)
Lymphatic malformation 1, 153100 (3)
FREM1 Bifid nose with or without anorectal and renal anomalies, 608980 (3)
Manitoba oculotrichoanal syndrome, 248450 (3)
Trigonocephaly 2, 614485 (3)
FREM2 Fraser syndrome 2, 617666 (3)
HFE Hemochromatosis, 235200 (3)
{Microvascular complications of diabetes 7}, 612635 (3)
{Porphyria cutanea tarda, susceptibility to}, 176100 (3)
{Porphyria variegata, susceptibility to}, 176200 (3)
[Transferrin serum level QTL2], 614193 (3)
{Alzheimer disease, susceptibility to}, 104300 (3)
HGD Alkaptonuria, 203500 (3)
HMCN1 {Macular degeneration, age-related, 1}, 603075 (3)
HPS5 Hermansky-Pudlak syndrome 5, 614074 (3)
ITPR1 Gillespie syndrome, 206700 (3)
Spinocerebellar ataxia 15, 606658 (3)
Spinocerebellar ataxia 29, congenital nonprogressive, 117360 (3)
JPH3 Huntington disease-like 2, 606438 (3)
KEL [Blood group, Kell], 110900 (3)
KRT86 Monilethrix, 158000 (3)
LAMA2 Muscular dystrophy, congenital, merosin deficient or partially deficient, 607855 (3)
Muscular dystrophy, limb-girdle, autosomal recessive 23, 618138 (3)
LIPE Lipodystrophy, familial partial, type 6, 615980 (3)
LRP5 Hyperostosis, endosteal, 144750 (3)
{Osteoporosis}, 166710 (3)
Exudative vitreoretinopathy 4, 601813 (3)
Osteopetrosis, autosomal dominant 1, 607634 (3)
Osteoporosis-pseudoglioma syndrome, 259770 (3)
Osteosclerosis, 144750 (3)
Polycystic liver disease 4 with or without kidney cysts, 617875 (3)
[Bone mineral density variability 1], 601884 (3)
van Buchem disease, type 2, 607636 (3)
LZTFL1 Bardet-Biedl syndrome 17, 615994 (3)
MCM6 Lactase persistence/nonpersistence, 223100 (3)
MYO6 Deafness, autosomal dominant 22, 606346 (3)
Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy, 606346 (3)
Deafness, autosomal recessive 37, 607821 (3)
NOD2 Blau syndrome, 186580 (3)
{Inflammatory bowel disease 1, Crohn disease}, 266600 (3)
{Psoriatic arthritis, susceptibility to}, 607507 (2)
{Yao syndrome}, 617321 (3)
NPHP4 Nephronophthisis 4, 606966 (3)
Senior-Loken syndrome 4, 606996 (3)
NSMF Hypogonadotropic hypogonadism 9 with or without anosmia, 614838 (3)
OPN1LW Blue cone monochromacy, 303700 (3)
Colorblindness, protan, 303900 (3)
OPN1MW Blue cone monochromacy, 303700 (3)
Colorblindness, deutan, 303800 (3)
PCDH19 Epileptic encephalopathy, early infantile, 9, 300088 (3)
PDE6B Night blindness, congenital stationary, autosomal dominant 2, 163500 (3)
Retinitis pigmentosa-40, 613801 (3)
PHGDH Neu-Laxova syndrome 1, 256520 (3)
Phosphoglycerate dehydrogenase deficiency, 601815 (3)
PLCB4 Auriculocondylar syndrome 2, 614669 (3)
PLCD1 Nail disorder, nonsyndromic congenital, 3, (leukonychia), 151600 (3)
POGZ White-Sutton syndrome, 616364 (3)
POLD1 Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, 615381 (3)
{Colorectal cancer, susceptibility to, 10}, 612591 (3)
POLG Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700 (3)
Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662 (3)
Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459 (3)
Progressive external ophthalmoplegia, autosomal dominant 1, 157640 (3)
Progressive external ophthalmoplegia, autosomal recessive 1, 258450 (3)
PRKDC Immunodeficiency 26, with or without neurologic abnormalities, 615966 (3)
PTPN14 Choanal atresia and lymphedema, 613611 (3)
RAD54L Adenocarcinoma, colonic, somatic (3)
Lymphoma, non-Hodgkin, somatic, 605027 (3)
{Breast cancer, invasive ductal}, 114480 (3)
RNF213 {Moyamoya disease 2, susceptibility to}, 607151 (3)
RPGRIP1L COACH syndrome, 216360 (3)
Joubert syndrome 7, 611560 (3)
Meckel syndrome 5, 611561 (3)
RTN4R {Schizophrenia, susceptibility to}, 181500 (3)
RYR2 Arrhythmogenic right ventricular dysplasia 2, 600996 (3)
Ventricular tachycardia, catecholaminergic polymorphic, 1, 604772 (3)
SCNN1G Bronchiectasis with or without elevated sweat chloride 3, 613071 (3)
Liddle syndrome 2, 618114 (3)
Pseudohypoaldosteronism, type I, 264350 (3)
SLC19A3 Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), 607483 (3)
SMARCAL1 Schimke immunoosseous dysplasia, 242900 (3)
SPTA1 Elliptocytosis-2, 130600 (3)
Pyropoikilocytosis, 266140 (3)
Spherocytosis, type 3, 270970 (3)
TAF15 Chondrosarcoma, extraskeletal myxoid, 612237 (1)
TBX15 Cousin syndrome, 260660 (3)
TERT {Leukemia, acute myeloid}, 601626 (3)
{Melanoma, cutaneous malignant, 9}, 615134 (3)
{Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1}, 614742 (3)
{Dyskeratosis congenita, autosomal dominant 2}, 613989 (3)
{Dyskeratosis congenita, autosomal recessive 4}, 613989 (3)
TFRC Immunodeficiency 46, 616740 (3)
TGFBI Corneal dystrophy, Avellino type, 607541 (3)
Corneal dystrophy, Groenouw type I, 121900 (3)
Corneal dystrophy, Reis-Bucklers type, 608470 (3)
Corneal dystrophy, Thiel-Behnke type, 602082 (3)
Corneal dystrophy, epithelial basement membrane, 121820 (3)
Corneal dystrophy, lattice type I, 122200 (3)
Corneal dystrophy, lattice type IIIA, 608471 (3)
TUBGCP4 Microcephaly and chorioretinopathy, autosomal recessive, 3, 616335 (3)
TUBGCP6 Microcephaly and chorioretinopathy, autosomal recessive, 1, 251270 (3)
XPNPEP2 {Angioedema induced by ACE inhibitors, susceptibility to}, 300909 (3)
ZFHX3 Prostate cancer, somatic, 176807 (3)

Genes at Clinical Genomics Database

ABCB4, ACTN2, ALMS1, AMH, ANK1, AQP3, ARHGAP31, ARID1B, ATM, ATP7B, BLNK, BSG, C6, CACNA1A, CAPN3, CASR, CEP290, CHD8, COL12A1, COL17A1, COL25A1, COL5A2, COL6A2, COQ2, CP, CR1, CUBN, CUL7, CYP17A1, DLL3, DNMT3B, DST, DUOX2, EPAS1, ESCO2, FAM83H, FBLN1, FLNC, FLT4, FREM1, FREM2, HDAC4, HFE, HGD, HMCN1, HPS5, ITPR1, JPH3, KEL, KRT86, LAMA2, LIPE, LRP5, LZTFL1, MCM6, MYO6, NOD2, NPHP4, NSMF, OPN1LW, OPN1MW, PCDH19, PDE6B, PHGDH, PLCB4, PLCD1, POGZ, POLD1, POLG, PRKDC, PTPN14, RNF213, RPGRIP1L, RYR2, SCNN1G, SLC19A3, SMARCAL1, SPTA1, TBX15, TERT, TFRC, TGFBI, TUBGCP4, TUBGCP6, XPNPEP2,
ABCB4 Cholestasis, progressive familial intrahepatic 3
Low phospholipid-associated cholelithiasis 1
Cholestasis, oral contraceptives induced
Cholestasis, familial intrahepatic, of pregnancy
Gallbladder disease 1
ACTN2 Cardiomyopathy, dilated, 1AA, with or without left ventricular noncompaction
Cardiomyopathy, hypertrophic 23, with or without left ventricular noncompaction
ALMS1 Alstrom syndrome
AMH Persistent Mullerian duct syndrome, type I
ANK1 Spherocytosis, hereditary 1
AQP3 Blood group, GIL
ARHGAP31 Adams-Oliver syndrome 1
ARID1B Mental retardation, autosomal dominant, 12
Coffin-Siris syndrome 1
ATM Breast cancer, susceptibility to
Ataxia-Telangiectasia
ATP7B Wilson disease
BLNK Agammaglobulinemia 4
BSG Blood group, OK
C6 Complement component 6 deficiency
CACNA1A Episodic ataxia, type 2
Migraine, familial hemiplegic 1
CAPN3 Muscular dystrophy, limb-girdle, type 2A
Eosinophilic myositis
CASR Hyperparathyroidism, neonatal
Hypocalcemia, autosomal dominant
Hypocalcemia, autosomal dominant, with Bartter syndrome
Hypocalciuric hypercalcemia, type I
Hyperparathyroidism, neonatal severe primary
Hypoparathyroidism, familial isolated
Hyperparathyroidism, familial primary
CEP290 Leber congenital amaurosis 10
Meckel syndrome 4
Senior-Loken syndrome 6
Joubert syndrome 5
Bardet-Biedl syndrome 14
CHD8 Autism, susceptibility to 18
COL12A1 Bethlem myopathy 2
Ullrich congenital muscular dystrophy 2
COL17A1 Epithelial recurrent erosion dystrophy (ERED)
Epidermolysis bullosa, junctional, non-Herlitz type
COL25A1 Fibrosis of extraocular muscles, congenital 5
COL5A2 Ehlers-Danlos syndrome, type I
Ehlers-Danlos syndrome, type II
COL6A2 Ullrich congenital muscular dystrophy 1
Myosclerosis, congenital
Bethlem myopathy 1
Epilepsy, progressive myoclonic, autosomal recessive
COQ2 Coenzyme Q10 deficiency 1
CP Aceruloplasminemia
Hypoceruloplasminemia
CR1 Blood group, Knops system
CUBN Megaloblastic anemia-1, Finnish type
CUL7 Three M syndrome 1
Yakut short stature syndrome
CYP17A1 Adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency
DLL3 Spondylocostal dysostosis 1, autosomal recessive
DNMT3B Immunodeficiency-centromeric instability-facial anomalies syndrome 1
DST Neuropathy, hereditary sensory and autonomic, type VI
DUOX2 Thyroid dyshormonogenesis 6
EPAS1 Erthyrocytosis, familial 4
ESCO2 SC phocomelia syndrome
Roberts syndrome
FAM83H Amelogenesis imperfecta, type 3
FBLN1 Synpolydactyly 2
FLNC Myopathy, distal, 4
Myopathy, myofibrillar, 5
FLT4 Lymphedema, hereditary I (Milory disease)
FREM1 Bifid nose with or without anorectal and renal anomalies
Trigonocephaly 2
Manitoba oculotrichoanal syndrome
Congenital diaphragmatic hernia, autosomal recessive
FREM2 Fraser syndrome
HDAC4 Brachydacytly-mental retardation syndrome
HFE Hemochromatosis
HGD Alkaptonuria
HMCN1 Macular degeneration, age-related, 1
HPS5 Hermansky-Pudlak syndrome 5
ITPR1 Spinocerebellar ataxia 15
Spinocerebellar ataxia 29
JPH3 Huntington disease-like 2
KEL Blood group, Kell system
KRT86 Monilethrix
LAMA2 Muscular dystrophy, congenital merosin-deficient, 1A
Schizophrenia
LIPE Abdominal obesity-metabolic syndrome 4
LRP5 van Buchem disease, type 2
Osteopetrosis, autosomal dominant 1
Osteosclerosis
Hyperostosis, endosteal
Exudative vitreoretinopathy 4
Osteoporosis-pseudoglioma syndrome
LZTFL1 Bardet-Biedl syndrome 17
MCM6 Lactose intolerance, adult type
Lactase persistence
MYO6 Deafness, autosomal recessive 37
NOD2 Blau syndrome
Sarcoidosis, early-onset
NPHP4 Nephronophthisis 4
Senior-Loken syndrome 4
NSMF Hypogonadotropic hypogonadism 9 with or without anosmia
OPN1LW Colorblindness, partial, protan series
Blue cone monochromacy
Red cone polymorphism
OPN1MW Colorblindness, partial, deutan series
Cone dystrophy 5, X-linked
Blue cone monochromacy
PCDH19 Epileptic encephalopathy, early infantile, 9
PDE6B Night blindness, congenital stationary, autosomal dominant 2
Retinitis pigmentosa 40
PHGDH Phosphoglycerate dehydrogenase deficiency
PLCB4 Auriculocondylar syndrome 2
PLCD1 Nail disorder, nonsyndromic congenital, 3
POGZ Mental retardation, autosomal dominant 37 (White-Sutton syndrome)
POLD1 Colorectal cancer, susceptibility to, 10
POLG Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Mitochondrial DNA depletion syndrome 4B
Sensory ataxia, dysarthria, and ophthalmoparesis
Mitochondrial DNA depletion syndrome 4A (Alpers type)
Alpers syndrome
POLG-related ataxia neuropathy spectrum disorders
PRKDC Immunodeficiency 26 with or without neurologic abnormalities
PTPN14 Choanal atresia and lymphedema
RNF213 Moyamoya disease 2
RPGRIP1L Meckel syndrome 5
Joubert syndrome 7
COACH syndrome
Retinal degeneration in ciliopathy, modifier of
RYR2 Ventricular tachycardia, catecholaminergic polymorphic, 1
Arrhythmogenic right ventricular dysplasia 2
SCNN1G Pseudohypoaldosteronism, type I
Liddle syndrome
Bronchiectasis with or without elevated sweat chloride 3
SLC19A3 Thiamine metabolism dysfunction syndrome 2 (biotin or thiamine responsive)
SMARCAL1 Schimke immunoosseous dysplasia
SPTA1 Spherocytosis, type 3
Pyropoikilocytosis , hereditary
Ellipsocytosis 2
TBX15 Cousin syndrome
TERT Aplastic anemia
Dyskeratosis congenita, autosomal dominant
Dyskeratosis congenita, autosomal recessive
Pulmonary fibrosis and/or bone marrow failure, telomere-related 1
TFRC Immunodeficiency 46
TGFBI Corneal dystrophy, lattice type I
Corneal dystrophy, lattice type IIIA
Corneal dystrophy of Bowman layer, type I
Corneal dystrophy, Avellino type
Corneal dystrophy, Reis-Bucklers type
Corneal dystrophy, Thiel-Behnke type
Corneal dystrophy, Groenouw type I
Corneal dystrophy, epithelial basement membrane
TUBGCP4 Microcephaly and chorioretinopathy, autosomal recessive 3
TUBGCP6 Microcephaly and chorioretinopathy, autosomal recessive 1
XPNPEP2 Angioedema induced by ACE inhibitors, susceptibility to

Genes at HGMD

Summary

Number of Variants: 193
Number of Genes: 130

Export to: CSV

ABCA7
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View eb409_unique 19 rs114782266
dbSNP Clinvar 		1059056 1904.26 G A PASS 0/1 111 NON_SYNONYMOUS_CODING MODERATE None 0.02995 0.02995 0.02684 0.04 0.02 None None None None None None ABCA7|0.007770288|82.8%

ABCB4
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View eb409_unique 7 rs371394487
dbSNP Clinvar 		87035688 1449.76 G A PASS 0/1 152 SYNONYMOUS_CODING LOW None 0.00038 None None None None None None ABCB4|0.238504845|32.55%

ACTN2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View eb409_unique 1 rs397516569
dbSNP Clinvar 		236911036 428.3 A T PASS 0/1 32 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None None None None None None None ACTN2|0.55570405|13.49%

ALMS1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View eb409_unique 2 . 73613122 535.32 C T PASS 0/1 26 SYNONYMOUS_CODING LOW None None None None None None None ALMS1|0.012791041|78.65%
View eb409_unique 2 . 73677554 2467.27 G A VQSRTrancheSNP99.90to100.00 0/1 115 SYNONYMOUS_CODING LOW None None None None None None None ALMS1|0.012791041|78.65%

AMH
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View eb409_unique 19 rs200031151
dbSNP Clinvar 		2251829 1460.57 C T PASS 0/1 53 NON_SYNONYMOUS_CODING MODERATE None 0.00100 0.00100 0.00108 1.00 0.10 None None None None None None AMH|0.062219269|59.26%

ANK1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View eb409_unique 8 . 41566374 1644.76 G C PASS 0/1 145 NON_SYNONYMOUS_CODING MODERATE None 0.00 1.00 None None None None None None ANK1|0.956309863|2.07%

ANKK1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View eb409_unique 11 rs181883517
dbSNP Clinvar 		113258787 365.76 G A PASS 0/1 43 NON_SYNONYMOUS_CODING MODERATE None 0.00020 0.00020 0.00053 0.94 0.00 None None None None None None ANKK1|0.031328783|68.87%

APEX1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View eb409_unique 14 rs1048945
dbSNP Clinvar 		20924167 6452.51 G C PASS 1/1 44 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.00958 0.00959 0.02806 0.03 0.02 None None None None None None None

APH1A
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View eb409_unique 1 . 150239050 1360.3 G A PASS 0/1 63 SYNONYMOUS_CODING LOW None None None None None None None APH1A|0.680054905|9.08%

AQP3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View eb409_unique 9 rs2231233
dbSNP Clinvar 		33442948 2016.26 C T PASS 0/1 117 NON_SYNONYMOUS_CODING MODERATE None 0.00100 0.00100 0.00008 0.70 0.00 None None None None None None AQP3|0.497451011|15.96%

ARHGAP24
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View eb409_unique 4 rs61758879
dbSNP Clinvar 		86852097 1578.59 G T PASS 0/1 54 None None None 0.03175 0.03175 0.01238 0.10 0.97 None None None None None None ARHGAP24|0.256470392|31.01%

ARHGAP31
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View eb409_unique 3 rs3796360
dbSNP Clinvar 		119134872 2372.27 G A PASS 0/1 138 NON_SYNONYMOUS_CODING MODERATE None 0.00399 0.00399 0.05 0.04 None None None None None None ARHGAP31|0.196163887|37.14%

ARID1B
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View eb409_unique 6 rs141783755
dbSNP Clinvar 		157522171 1367.76 T G PASS 0/1 134 SYNONYMOUS_CODING LOW None 0.00260 0.00260 0.00292 None None None None None None ARID1B|0.540737445|14.17%

ASMT
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View eb409_unique X rs121918822
dbSNP Clinvar 		1761761 2059.26 C T PASS 0/1 88 NON_SYNONYMOUS_CODING MODERATE None 0.00140 0.00140 0.00108 0.06 0.80 None None None None None None None

ATM
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View eb409_unique 11 rs149182949
dbSNP Clinvar 		108150311 609.78 A G PASS 0/1 42 SYNONYMOUS_CODING LOW None 0.00015 None None None None None None ATM|0.992666029|0.97%

ATP7B
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View eb409_unique 13 rs786204570
dbSNP Clinvar 		52548577 7123.24 T TG VQSRTrancheINDEL99.00to99.90 0/1 283 FRAME_SHIFT HIGH None None None None None None None ATP7B|0.044059753|64.5%

BCL9
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View eb409_unique 1 rs782131903
dbSNP Clinvar 		147096407 2995.27 A G PASS 0/1 135 NON_SYNONYMOUS_CODING MODERATE None 0.08 0.06 None None None None None None BCL9|0.427986673|19.22%

BLNK
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View eb409_unique 10 rs138625467
dbSNP Clinvar 		97987317 670.76 G A PASS 0/1 60 SYNONYMOUS_CODING LOW None 0.00020 0.00020 0.00023 None None None None None None BLNK|0.20887815|35.7%

BRSK2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View eb409_unique 11 rs200368980
dbSNP Clinvar 		1471027 871.26 C G PASS 0/1 52 SYNONYMOUS_CODING LOW None 0.00048 None None None None None None None

BSG
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View eb409_unique 19 rs1803535
dbSNP Clinvar 		580710 25243.97 G A VQSRTrancheSNP99.00to99.90 1/1 88 SYNONYMOUS_CODING LOW None 0.01138 0.01138 0.02715 None None None None None None None

C6
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View eb409_unique 5 rs145422926
dbSNP Clinvar 		41203190 3216.25 C T PASS 0/1 161 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.00031 0.01 0.60 None None None None None None C6|0.050272819|62.58%

CABIN1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View eb409_unique 22 rs146248697
dbSNP Clinvar 		24451529 1118.76 G A PASS 0/1 138 NON_SYNONYMOUS_CODING MODERATE None 0.97 0.00 None None None None None None CABIN1|0.222656185|34.11%

CACNA1A
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View eb409_unique 19 rs745609731
dbSNP Clinvar 		13320169 1116.76 G A PASS 0/1 121 SYNONYMOUS_CODING LOW None None None None None None None CACNA1A|0.210424701|35.52%

CAPN3
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View eb409_unique 15 rs1801496
dbSNP Clinvar 		42652099 19886.93 T C PASS 1/1 53 SYNONYMOUS_CODING LOW None 0.09425 0.09425 0.10028 None None None None None None None

CASR
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View eb409_unique 3 rs77852524
dbSNP Clinvar 		121973114 684.26 C G PASS 0/1 68 SYNONYMOUS_CODING LOW None 0.01118 0.01118 0.00008 None None None None None None CASR|0.90333935|3.37%

CELSR1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View eb409_unique 22 rs35087594
dbSNP Clinvar 		46930239 1182.76 G A VQSRTrancheSNP99.90to100.00 0/1 102 SYNONYMOUS_CODING LOW None 0.00020 0.00020 0.00231 None None None None None None CELSR1|0.033878373|67.81%

CEP290
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View eb409_unique 12 rs201838492
dbSNP Clinvar 		88483184 1742.3 A G PASS 0/1 59 SYNONYMOUS_CODING LOW None 0.00241 None None None None None None CEP290|0.560411435|13.34%

CHD8
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View eb409_unique 14 . 21896066 2200.27 T C PASS 0/1 101 SYNONYMOUS_CODING LOW None None None None None None None CHD8|0.616080012|11.24%

CHGA
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View eb409_unique 14 rs765455865
dbSNP Clinvar 		93398815 34.98 AGAG A PASS 0/1 14 CODON_DELETION MODERATE None 0.00623 None None None None None None CHGA|0.117443288|47.87%

COL12A1
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View eb409_unique 6 rs200408101
dbSNP Clinvar 		75822972 289.78 A G PASS 0/1 79 NON_SYNONYMOUS_CODING MODERATE None 0.00080 0.00080 0.00060 0.06 None None None None None None COL12A1|0.494206072|16.13%

COL17A1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View eb409_unique 10 rs146490594
dbSNP Clinvar 		105819406 1762.29 G A PASS 0/1 97 SYNONYMOUS_CODING LOW None 0.00020 0.00020 0.00062 None None None None None None COL17A1|0.220252717|34.39%

COL25A1
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View eb409_unique 4 rs780314156
dbSNP Clinvar 		109822320 1048.3 G A PASS 0/1 55 SYNONYMOUS_CODING LOW None None None None None None None COL25A1|0.612068275|11.4%

COL5A2
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View eb409_unique 2 rs35830636
dbSNP Clinvar 		189932764 14872.39 G A PASS 1/1 102 NON_SYNONYMOUS_CODING MODERATE None 0.01158 0.01158 0.03975 0.78 None None None None None None COL5A2|0.575233366|12.81%

COL6A2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View eb409_unique 21 rs781159323
dbSNP Clinvar 		47549217 1926.26 G A PASS 0/1 124 None None None 0.53 0.00 None None None None None None COL6A2|0.07894144|55.42%

COQ2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View eb409_unique 4 rs550949678
dbSNP Clinvar 		84205748 645.39 C G PASS 0/1 24 NON_SYNONYMOUS_CODING MODERATE None 0.00020 0.00020 0.11 0.44 None None None None None None COQ2|0.032632343|68.33%

CP
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View eb409_unique 3 rs201270965
dbSNP Clinvar 		148904392 3172.3 T C PASS 0/1 140 SYNONYMOUS_CODING LOW None None None None None None None CP|0.122810298|46.99%

CR1
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View eb409_unique 1 rs770700783
dbSNP Clinvar 		207753758 128.79 G T PASS 0/1 20 NON_SYNONYMOUS_CODING MODERATE None 0.14 0.42 None None None None None None CR1|0.004291335|86.61%
View eb409_unique 1 . 207669722 272.76 C T PASS 0/1 34 NON_SYNONYMOUS_CODING MODERATE None 0.02 0.01 None None None None None None CR1|0.004291335|86.61%

CUBN
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View eb409_unique 10 rs2271462
dbSNP Clinvar 		16982061 7545.56 C T PASS 1/1 46 NON_SYNONYMOUS_CODING MODERATE None 0.11761 0.11760 0.05728 0.10 0.09 None None None None None None None
View eb409_unique 10 rs2356590
dbSNP Clinvar 		16979606 7429.57 G T PASS 1/1 54 NON_SYNONYMOUS_CODING MODERATE None 0.07947 0.07947 0.01776 0.05 0.92 None None None None None None None
View eb409_unique 10 rs2271468
dbSNP Clinvar 		16990552 13227.56 G A PASS 1/1 78 SYNONYMOUS_CODING LOW None 0.11821 0.11820 0.05690 None None None None None None None

CUL7
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View eb409_unique 6 rs75773293
dbSNP Clinvar 		43019864 167.8 G A PASS 0/1 24 SYNONYMOUS_CODING LOW None 0.02396 0.02396 0.01796 None None None None None None CUL7|0.094717555|52.2%,KLC4|0.296811456|27.9%

CYP17A1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View eb409_unique 10 rs61754263
dbSNP Clinvar 		104597057 244.8 C T PASS 0/1 32 NON_SYNONYMOUS_CODING MODERATE None 0.00060 0.00060 0.00069 1.00 0.00 None None None None None None CYP17A1|0.03405949|67.76%

DISP1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View eb409_unique 1 rs143316612
dbSNP Clinvar 		223116579 292.75 G A PASS 0/1 11 SYNONYMOUS_CODING LOW None 0.00100 0.00100 0.00200 None None None None None None DISP1|0.10684412|49.82%

DLG5
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View eb409_unique 10 rs35837544
dbSNP Clinvar 		79576772 22411.31 G A PASS 1/1 87 SYNONYMOUS_CODING LOW None 0.01697 0.01697 0.02537 None None None None None None DLG5|0.1770919|39.42%

DLL3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View eb409_unique 19 . 39993527 198.94 A C PASS 0/1 60 NON_SYNONYMOUS_CODING MODERATE None 0.02 0.36 None None None None None None DLL3|0.048875309|62.99%

DMBT1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View eb409_unique 10 rs200439469
dbSNP Clinvar 		124348479 285.51 C T VQSRTrancheSNP99.90to100.00 0/1 26 SYNONYMOUS_CODING LOW None 0.00060 0.00060 0.00189 None None None None None None DMBT1|0.008326415|82.3%

DNAH9
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View eb409_unique 17 rs150055739
dbSNP Clinvar 		11806119 3203.56 C T PASS 0/1 144 SYNONYMOUS_CODING LOW None 0.00040 0.00040 0.00008 None None None None None None DNAH9|0.176098085|39.51%

DNMT3B
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View eb409_unique 20 rs200193299
dbSNP Clinvar 		31386378 1841.76 G A PASS 0/1 173 NON_SYNONYMOUS_CODING MODERATE None 0.00040 0.00040 0.17 0.00 None None None None None None DNMT3B|0.978021249|1.52%

DST
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Qual
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View eb409_unique 6 rs45487998
dbSNP Clinvar 		56483679 3462.26 T G PASS 0/1 121 None None None 0.00140 0.00140 0.00231 0.00 0.18 None None None None None None DST|0.807318345|5.62%

DUOX2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Alt
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View eb409_unique 15 rs145502900
dbSNP Clinvar 		45392257 1317.26 G A PASS 0/1 80 NON_SYNONYMOUS_CODING MODERATE None 0.00023 0.00 1.00 None None None None None None DUOX2|0.097866177|51.55%

EPAS1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View eb409_unique 2 rs149994721
dbSNP Clinvar 		46609733 395.55 G A VQSRTrancheSNP99.00to99.90 0/1 20 SYNONYMOUS_CODING LOW None 0.00060 0.00060 0.00192 None None None None None None EPAS1|0.56101019|13.31%

EPHB6
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View eb409_unique 7 rs201556658
dbSNP Clinvar 		142566409 1140.76 G A PASS 0/1 84 NON_SYNONYMOUS_CODING MODERATE None 0.00015 0.00 0.19 None None None None None None EPHB6|0.088181957|53.61%

ESCO2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Qual
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View eb409_unique 8 rs143346057
dbSNP Clinvar 		27645419 278.78 A C PASS 0/1 44 NON_SYNONYMOUS_CODING MODERATE None 0.00020 0.00020 0.00115 0.27 0.01 None None None None None None None

FAM83H
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View eb409_unique 8 . 144808124 649.76 G A PASS 0/1 48 SYNONYMOUS_CODING LOW None None None None None None None FAM83H|0.021297262|73.53%

FBLN1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View eb409_unique 22 rs61739202
dbSNP Clinvar 		45996293 811.76 C T PASS 0/1 101 None None None 0.03514 0.03514 0.03706 None None None None None None FBLN1|0.107064259|49.78%

FCAR
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View eb409_unique 19 rs77103719
dbSNP Clinvar 		55401124 4758.53 G A PASS 0/1 158 SYNONYMOUS_CODING LOW None 0.00619 0.00619 0.00015 None None None None None None FCAR|0.000479395|98.55%

FLNC
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View eb409_unique 7 rs2291561
dbSNP Clinvar 		128477547 38716.36 T C PASS 1/1 58 SYNONYMOUS_CODING LOW None 0.12101 0.12100 0.11440 None None None None None None FLNC|0.38745066|21.56%
View eb409_unique 7 rs2291560
dbSNP Clinvar 		128477472 29166.34 T C PASS 1/1 45 SYNONYMOUS_CODING LOW None 0.12181 0.12180 0.11640 None None None None None None FLNC|0.38745066|21.56%

FLT4
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View eb409_unique 5 rs307821
dbSNP Clinvar 		180030313 46006.25 C A,G PASS 0/2 122 NON_SYNONYMOUS_CODING MODERATE None 0.08951 0.65 0.00 None None None None None None FLT4|0.206670635|35.92%

FREM1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View eb409_unique 9 . 14784501 589.78 G T PASS 0/1 77 NON_SYNONYMOUS_CODING MODERATE None 0.00 1.00 None None None None None None FREM1|0.310358547|26.81%

FREM2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View eb409_unique 13 rs1868463
dbSNP Clinvar 		39266484 5852.4 G A PASS 1/1 10 NON_SYNONYMOUS_CODING MODERATE None 0.12121 0.12120 0.04829 0.00 0.84 None None None None None None FREM2|0.138477767|44.62%

FRG1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View eb409_unique 4 rs892698755
dbSNP Clinvar 		190864383 1484.3 A G VQSRTrancheSNP99.00to99.90 0/1 76 NON_SYNONYMOUS_CODING MODERATE None 0.24 0.29 None None None None None None FRG1|0.098149242|51.5%

GPANK1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View eb409_unique 6 rs201946801
dbSNP Clinvar 		31630052 2943.55 G C PASS 0/1 78 SYNONYMOUS_CODING LOW None 0.00020 0.00020 None None None None None None GPANK1|0.053434389|61.65%

GSDMA
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View eb409_unique 17 rs370430499
dbSNP Clinvar 		38122024 1757.77 C T PASS 0/1 139 SYNONYMOUS_CODING LOW None 0.00008 None None None None None None GSDMA|0.08984738|53.26%

GSTK1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View eb409_unique 7 rs144260278
dbSNP Clinvar 		142962151 1618.26 C T PASS 0/1 133 NON_SYNONYMOUS_CODING MODERATE None 0.00020 0.00020 0.00031 1.00 0.00 None None None None None None GSTK1|0.028337467|70.28%

GSTM3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View eb409_unique 1 rs779498787
dbSNP Clinvar 		110282890 645.26 A G PASS 0/1 38 NON_SYNONYMOUS_CODING MODERATE None 0.01 0.79 None None None None None None GSTM5|0.009497757|81.28%,GSTM3|0.140066713|44.38%

HDAC4
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View eb409_unique 2 rs144099208
dbSNP Clinvar 		240011747 1706.26 G A PASS 0/1 83 SYNONYMOUS_CODING LOW None 0.00020 0.00020 0.00023 None None None None None None HDAC4|0.732602049|7.56%

HFE
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View eb409_unique 6 rs139523708
dbSNP Clinvar 		26091192 857.76 G A PASS 0/1 118 NON_SYNONYMOUS_CODING MODERATE None 0.00023 0.03 0.07 None None None None None None None

HGD
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View eb409_unique 3 rs141965690
dbSNP Clinvar 		120389335 2215.29 T A PASS 0/1 87 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.00200 0.00200 0.00023 0.36 0.00 None None None None None None HGD|0.470620762|17.15%

HLA-DOA
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View eb409_unique 6 rs141887419
dbSNP Clinvar 		32974914 753.76 C A PASS 0/1 80 NON_SYNONYMOUS_CODING MODERATE None 0.00020 0.00020 0.00131 0.00 0.83 None None None None None None HLA-DOA|0.020809956|73.77%

HMCN1
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View eb409_unique 1 rs140493567
dbSNP Clinvar 		186072648 1445.78 G A PASS 0/1 124 NON_SYNONYMOUS_CODING MODERATE None 0.00080 0.00080 0.00223 0.99 None None None None None None HMCN1|0.275888277|29.46%

HPS5
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View eb409_unique 11 rs149677540
dbSNP Clinvar 		18317571 2397.27 C A PASS 0/1 79 NON_SYNONYMOUS_CODING MODERATE None 0.00060 0.00060 0.00069 0.09 0.05 None None None None None None HPS5|0.115331572|48.24%

ITPR1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View eb409_unique 3 . 4777036 937.78 C A PASS 0/1 70 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.01 0.24 None None None None None None None

JPH3
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View eb409_unique 16 rs202066813
dbSNP Clinvar 		87678579 848.26 C T PASS 0/1 44 SYNONYMOUS_CODING LOW None 0.00040 0.00040 0.00031 None None None None None None JPH3|0.231218042|33.27%
View eb409_unique 16 rs199746547
dbSNP Clinvar 		87677940 408.76 C T PASS 0/1 58 SYNONYMOUS_CODING LOW None 0.00015 None None None None None None JPH3|0.231218042|33.27%

KEL
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View eb409_unique 7 rs150993188
dbSNP Clinvar 		142641809 828.76 G A PASS 0/1 85 NON_SYNONYMOUS_CODING MODERATE None 0.00008 0.15 0.04 None None None None None None KEL|0.020426941|73.94%
View eb409_unique 7 rs61728831
dbSNP Clinvar 		142643340 804.76 G A PASS 0/1 95 NON_SYNONYMOUS_CODING MODERATE None 0.00008 0.01 0.76 None None None None None None KEL|0.020426941|73.94%

KRT86
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View eb409_unique 12 rs201694571
dbSNP Clinvar 		52695760 3293.53 C G VQSRTrancheSNP99.00to99.90 0/1 118 SYNONYMOUS_CODING LOW None 0.00519 0.00519 0.00273 None None None None None None KRT86|0.255577854|31.06%

LAMA2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View eb409_unique 6 rs146854942
dbSNP Clinvar 		129777604 722.76 A G PASS 0/1 59 NON_SYNONYMOUS_CODING MODERATE None 0.00023 0.17 0.01 None None None None None None LAMA2|0.84870738|4.68%
View eb409_unique 6 rs117422805
dbSNP Clinvar 		129601217 1297.76 C T PASS 0/1 132 NON_SYNONYMOUS_CODING MODERATE None 0.00080 0.00080 0.00238 0.00 0.96 None None None None None None LAMA2|0.84870738|4.68%

LAMA5
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View eb409_unique 20 rs140678341
dbSNP Clinvar 		60901961 2736.26 A G PASS 0/1 152 NON_SYNONYMOUS_CODING MODERATE None 0.00008 0.00 None None None None None None LAMA5|0.046968919|63.61%

LIPE
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View eb409_unique 19 rs41275756
dbSNP Clinvar 		42931185 395.78 C T PASS 0/1 35 SYNONYMOUS_CODING LOW None 0.00100 0.00100 0.00277 None None None None None None LIPE|0.218109682|34.59%

LNX2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View eb409_unique 13 rs148603061
dbSNP Clinvar 		28122475 1849.77 T A PASS 0/1 212 SYNONYMOUS_CODING LOW None 0.00040 0.00060 0.00085 None None None None None None None

LRP5
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View eb409_unique 11 . 68154010 321.77 G A PASS 0/1 28 SYNONYMOUS_CODING LOW None None None None None None None LRP5|0.688053439|8.86%

LZTFL1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View eb409_unique 3 rs1129183
dbSNP Clinvar 		45869972 59457.84 C T PASS 1/1 168 NON_SYNONYMOUS_CODING MODERATE None 0.05411 0.05411 0.06735 0.10 0.46 None None None None None None LZTFL1|0.104893226|50.25%

MCM6
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View eb409_unique 2 rs3087353
dbSNP Clinvar 		136623717 1276.54 C T PASS 0/1 61 SYNONYMOUS_CODING LOW None 0.03594 0.03594 0.00085 None None None None None None MCM6|0.857412549|4.52%

MYH13
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View eb409_unique 17 rs771955776
dbSNP Clinvar 		10212892 1035.76 G C PASS 0/1 96 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.45 None None None None None None None

MYO6
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View eb409_unique 6 rs55905349
dbSNP Clinvar 		76602282 1109.26 G A PASS 0/1 77 SYNONYMOUS_CODING LOW None 0.00359 0.00359 0.00615 None None None None None None MYO6|0.740157539|7.36%

NCAN
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View eb409_unique 19 rs2229851
dbSNP Clinvar 		19351431 25461.56 G A PASS 1/1 88 SYNONYMOUS_CODING LOW None 0.06390 0.06390 0.03429 None None None None None None NCAN|0.020845043|73.74%

NEBL
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View eb409_unique 10 rs727503337
dbSNP Clinvar 		21178792 922.78 G A PASS 0/1 102 SYNONYMOUS_CODING LOW None None None None None None None NEBL|0.384110937|21.79%

NID1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View eb409_unique 1 rs201356535
dbSNP Clinvar 		236157033 1362.26 G A PASS 0/1 76 SYNONYMOUS_CODING LOW None 0.00280 0.00280 0.00085 None None None None None None NID1|0.22207718|34.2%

NOD2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View eb409_unique 16 rs61736932
dbSNP Clinvar 		50745655 3387.26 C T PASS 0/1 129 SYNONYMOUS_CODING LOW None 0.00260 0.00260 0.00754 None None None None None None NOD2|0.13707172|44.87%

NPHP4
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View eb409_unique 1 rs187947581
dbSNP Clinvar 		5935064 1506.26 T C PASS 0/1 67 NON_SYNONYMOUS_CODING MODERATE None 0.00260 0.00260 0.00278 0.08 0.02 None None None None None None None

NRXN3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View eb409_unique 14 rs200274508
dbSNP Clinvar 		79175866 3296.3 G A PASS 0/1 147 NON_SYNONYMOUS_CODING MODERATE None 0.00015 0.80 0.99 None None None None None None NRXN3|0.999470408|0.35%

NSMF
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View eb409_unique 9 . 140348855 249.76 C T PASS 0/1 38 NON_SYNONYMOUS_CODING MODERATE None 0.61 0.26 None None None None None None NSMF|0.116435297|48.06%

OBSCN
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View eb409_unique 1 rs188302055
dbSNP Clinvar 		228506912 2109.6 T C PASS 0/1 58 NON_SYNONYMOUS_CODING MODERATE None 0.00419 0.00419 0.00722 1.00 None None None None None None OBSCN|0.023922951|72.24%
View eb409_unique 1 rs56015866
dbSNP Clinvar 		228520995 1193.54 G A PASS 0/1 57 NON_SYNONYMOUS_CODING MODERATE None 0.00419 0.00419 0.00686 0.30 None None None None None None OBSCN|0.023922951|72.24%

OPN1LW
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View eb409_unique X rs1065421,rs77453588
dbSNP Clinvar 		153416346 873.58 A G VQSRTrancheSNP99.90to100.00 0/1 160 NON_SYNONYMOUS_CODING MODERATE None 0.11391 0.11390 0.08281 0.49 0.00 None None None None None None OPN1LW|0.035400156|67.35%